David Blair, MD, PhD
Education
Honors and Awards
Garg R, Sullivan J, Blair D, Wallerstein R. KCNK4-related channelopathy causing a neurodevelopmental syndrome. BMJ case reports 2023. PMID: 37931962
Stallworth JY, Blair DR, Slavotinek A, Moore AT, Duncan JL, de Alba Campomanes AG. Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency. Ophthalmic genetics 2022. PMID: 36420660
Penon-Portmann M, Blair DR, Harmatz P. Current and new therapies for mucopolysaccharidoses. Pediatrics and neonatology 2022. PMID: 36464587
Galarreta CI, Kennedy C, Blair DR, Slavotinek A. Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype. Volume 188 of Issue 9. American journal of medical genetics. Part A 2022. PMID: 35770347
Blair DR, Hoffmann TJ, Shieh JT. Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. Nature communications 2022. PMID: 35760791
Penon-Portmann M, Chang J, Blair DR, Rodriguez-Alonso B, Cakmak H, Rajkovic A, Shieh JT. Human Embryonic Expression Identifies Novel Essential Gene Candidates bioRxiv 2020. PMID:
Jia G, Li Y, Zhang H, Chattopadhyay I, Boeck Jensen A, Blair DR, Davis L, Robinson PN, Dahlén T, Brunak S, Benson M, Edgren G, Cox NJ, Gao X, Rzhetsky A. Estimating heritability and genetic correlations from large health datasets in the absence of genetic data. Volume 10 of Issue 1. Nature communications 2019. PMID: 31796735
Blair DR, Wang K, Nestorov S, Evans JA, Rzhetsky A. Quantifying the impact and extent of undocumented biomedical synonymy. Volume 10 of Issue 9. PLoS computational biology 2014. PMID: 25255227
Blair DR, Lyttle CS, Mortensen JM, Bearden CF, Jensen AB, Khiabanian H, Melamed R, Rabadan R, Bernstam EV, Brunak S, Jensen LJ, Nicolae D, Shah NH, Grossman RL, Cox NJ, White KP, Rzhetsky A. A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. Volume 155 of Issue 1. Cell 2013. PMID: 24074861
Blair DR, Funai K, Schweitzer GG, Cartee GD. A myosin II ATPase inhibitor reduces force production, glucose transport, and phosphorylation of AMPK and TBC1D1 in electrically stimulated rat skeletal muscle. Volume 296 of Issue 5. American journal of physiology. Endocrinology and metabolism 2009. PMID: 19190254